• Gene id: 5238

Gene Summary

• Gene Symbol: PGM3   Gene   UCSC   Ensembl
• Aliases: AGM1, IMD23, PAGM, PGM 3
• Gene name: phosphoglucomutase 3
• Alternate names: phosphoacetylglucosamine mutase, N-acetylglucosamine-phosphate mutase 1, acetylglucosamine phosphomutase,
• Gene location: 6q14.1 (83193899: 83150727)     Exons: 19     NC_000006.12
• Gene summary(Entrez): This gene encodes a member of the phosphohexose mutase family. The encoded protein mediates both glycogen formation and utilization by catalyzing the interconversion of glucose-1-phosphate and glucose-6-phosphate. A non-synonymous single nucleotide polymo
• OMIM: 172100

Protein Summary

• Protein general information: O95394  
  • Name: Phosphoacetylglucosamine mutase (PAGM) (EC 5.4.2.3) (Acetylglucosamine phosphomutase) (N acetylglucosamine phosphate mutase) (Phosphoglucomutase 3) (PGM 3)
  • Length: 542  
  • Mass: 59852
  • Tissue specificity: Found in many tissues except lung. Relatively high expression in pancreas, heart, liver, and placenta, and relatively low expression in brain, skeletal muscle and kidney. {ECO
• Sequence:

  MDLGAITKYSALHAKPNGLILQYGTAGFRTKAEHLDHVMFRMGLLAVLRSKQTKSTIGVMVTASHNPEEDNGVKL
  VDPLGEMLAPSWEEHATCLANAEEQDMQRVLIDISEKEAVNLQQDAFVVIGRDTRPSSEKLSQSVIDGVTVLGGQ
  FHDYGLLTTPQLHYMVYCRNTGGRYGKATIEGYYQKLSKAFVELTKQASCSGDEYRSLKVDCANGIGALKLREME
  HYFSQGLSVQLFNDGSKGKLNHLCGADFVKSHQKPPQGMEIKSNERCCSFDGDADRIVYYYHDADGHFHLIDGDK
  IATLISSFLKELLVEIGESLNIGVVQTAYANGSSTRYLEEVMKVPVYCTKTGVKHLHHKAQEFDIGVYFEANGHG
  TALFSTAVEMKIKQSAEQLEDKKRKAAKMLENIIDLFNQAAGDAISDMLVIEAILALKGLTVQQWDALYTDLPNR
  QLKVQVADRRVISTTDAERQAVTPPGLQEAINDLVKKYKLSRAFVRPSGTEDVVRVYAEADSQESADHLAHEVSL
  AVFQLAGGIGERPQPGF

• Structural information:
  • Interpro: IPR005844  IPR016055  IPR005843  IPR036900  IPR016066   IPR016657  
  • Prosite: PS00710
  • CDD: cd03086
  • STRING: ENSP00000425809
• Other Databases: GeneCards:  PGM3  Malacards:  PGM3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004610	phosphoacetylglucosamine mutase activity	IBA	molecular function
GO:0006048	UDP-N-acetylglucosamine biosynthetic process	IBA	biological process
GO:0030097	hemopoiesis	IBA	biological process
GO:0006048	UDP-N-acetylglucosamine biosynthetic process	IMP	biological process
GO:0004610	phosphoacetylglucosamine mutase activity	IMP	molecular function
GO:0006493	protein O-linked glycosylation	IMP	biological process
GO:0006487	protein N-linked glycosylation	IMP	biological process
GO:0000287	magnesium ion binding	IEA	molecular function
GO:0004610	phosphoacetylglucosamine mutase activity	IEA	molecular function
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0016868	intramolecular transferase activity, phosphotransferases	IEA	molecular function
GO:0071704	organic substance metabolic process	IEA	biological process
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016853	isomerase activity	IEA	molecular function
GO:0004610	phosphoacetylglucosamine mutase activity	IEA	molecular function
GO:0004610	phosphoacetylglucosamine mutase activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0006048	UDP-N-acetylglucosamine biosynthetic process	TAS	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0006048	UDP-N-acetylglucosamine biosynthetic process	IEA	biological process
GO:0004610	phosphoacetylglucosamine mutase activity	IEA	molecular function
GO:0030097	hemopoiesis	IEA	biological process
GO:0019255	glucose 1-phosphate metabolic process	IEA	biological process
GO:0004614	phosphoglucomutase activity	IEA	molecular function
GO:0006048	UDP-N-acetylglucosamine biosynthetic process	IEA	biological process
GO:0004610	phosphoacetylglucosamine mutase activity	IDA	molecular function
GO:0006041	glucosamine metabolic process	NAS	biological process
GO:0005575	cellular_component	ND	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00520	Amino sugar and nucleotide sugar metabolism

Diseases

Associated diseases	References
Hyper-IgE syndrome	KEGG:H01968
Hyper-IgE syndrome	KEGG:H01968
Teratoma	PMID:5259759
cervical cancer	PMID:508567
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881